ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter)

gnomAD frequency: 0.00001  dbSNP: rs769100855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001873228 SCV002225020 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 638060). This premature translational stop signal has been observed in individual(s) with sponastrime dysplasia (PMID: 30773277). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln803*) in the TONSL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TONSL are known to be pathogenic (PMID: 30773277).
OMIM RCV000790526 SCV000929858 pathogenic Sponastrime dysplasia 2019-07-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000790526 SCV001439041 likely pathogenic Sponastrime dysplasia no assertion criteria provided research

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